Symbol: Name: ID: |
CASQ2 calsequestrin 2 (cardiac muscle) GFS:4387 |
Gene name: | CASQ2 |
Chromosome: | 1p13.3-p11 |
Previous Symbols: | |
Previous Names: | |
Aliases: | PDIB2 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1309469 | Rat Genome Database ID: | RGD:2276 |
HGNC ID: | HGNC:1513 | RefSeq IDs: | NM_001232 |
Entrez Gene ID: | 845 | Ensembl Gene ID: | ENSG00000118729 |
VEGA IDs: | OTTHUMG00000011970 | UniProt ID: | O14958 |
UCSC ID: | uc001efx.3 | OMIM ID: | 114251 |
Pubmed: | PMID8406504 | ||
CCDS IDs: | CCDSCCDS884.1 |
The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. Binds 40 to 50 moles of calcium.
Products for CASQ2 gene
Catalog | Product Name | Application | Company |
GFS:E04387 | calsequestrin 2 (cardiac muscle); ELISA kit | ELISA | n/a |
GFS:A04387 | calsequestrin 2 (cardiac muscle); Anti | ANTIBODIES | n/a |
GFS:P04387 | calsequestrin 2 (cardiac muscle); Protien | Protien | n/a |